Resolving the “dark matter” of the exome

June 2, 2016 @ 11:00 am - 12:00 pm PDT

Mapping the repetitive regions of the genome remains challenging with current sequencing methods due to the reliance on short reads of ~200-400bp. About 10% (1,998 genes) of the exome have highly homologous paralogs located elsewhere in the genome and are therefore difficult to resolve. 286 such genes belong to the medical exome.

In this webcast a methodology to systematically resolve these genes using the 10x Genomics Chromium platform coupled with Agilent’s SureSelect target enrichment and optimized baits will be presented. This optimised exome contains “bridging baits” spaced within intronic and intergenic regions to preserve long-range information following capture. We show that 184/219 of the genes are resolvable (MAPQ≥30) when pre-processed via Chromium + optimized baits, thereby unveiling how linked-reads can be used for de-convoluting dark matter regions of the genome.

In this webcast you will learn:

New methodology to systematically resolve the medical exome using the 10x Genomics Chromium platform coupled with Agilent’s SureSelect target enrichment and optimised baits.